CFAP97

cilia and flagella associated protein 97, the group of Cilia and flagella associated

Basic information

Region (hg38): 4:185159665-185209504

Previous symbols: [ "KIAA1430" ]

Links

ENSG00000164323 ∙ NCBI:57587 ∙ OMIM:616047 ∙ HGNC:29276 ∙ Uniprot:Q9P2B7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP97 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP97 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	3	5
missense			55	4	1	60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	6	4

Variants in CFAP97

This is a list of pathogenic ClinVar variants found in the CFAP97 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-185162812-T-A		not specified	Uncertain significance (Feb 23, 2023)
4-185162815-G-A		not specified	Uncertain significance (Jun 10, 2024)
4-185162832-G-A		not specified	Uncertain significance (Dec 04, 2024)
4-185162833-G-A		not specified	Uncertain significance (Aug 04, 2023)
4-185162848-G-A		not specified	Uncertain significance (Apr 22, 2024)
4-185162862-T-C		not specified	Uncertain significance (Feb 16, 2023)
4-185162867-C-T			Likely benign (May 01, 2023)
4-185162868-G-A		not specified	Likely benign (Sep 16, 2021)
4-185162874-C-G		not specified	Uncertain significance (Jan 22, 2024)
4-185162874-C-T		not specified	Uncertain significance (Aug 04, 2024)
4-185162901-G-A			Benign (Dec 31, 2019)
4-185164065-G-A		not specified	Uncertain significance (Dec 18, 2023)
4-185164091-T-A		not specified	Uncertain significance (Jul 16, 2024)
4-185164091-T-C		not specified	Uncertain significance (Jun 23, 2023)
4-185164101-T-C		not specified	Uncertain significance (Aug 10, 2023)
4-185164128-A-C		not specified	Uncertain significance (Jul 27, 2022)
4-185164130-C-T		not specified	Uncertain significance (Dec 10, 2024)
4-185164155-C-T		not specified	Uncertain significance (Feb 26, 2024)
4-185164158-C-T		not specified	Uncertain significance (May 09, 2023)
4-185175815-C-G		not specified	Uncertain significance (May 28, 2024)
4-185175843-T-C			Likely benign (Nov 01, 2024)
4-185175865-G-A		not specified	Uncertain significance (Jan 03, 2024)
4-185175877-G-A		not specified	Uncertain significance (Nov 06, 2023)
4-185175882-T-G		not specified	Uncertain significance (Sep 27, 2021)
4-185175922-A-G		not specified	Uncertain significance (Jun 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP97	protein_coding	protein_coding	ENST00000458385	4	49840

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000105	0.950	124563	0	60	124623	0.000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.229	284	273	1.04	0.0000141	3460
Missense in Polyphen		85	91.735	0.92658		1200
Synonymous	-0.0444	103	102	1.01	0.00000554	997
Loss of Function	1.78	9	16.9	0.534	7.01e-7	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000931	0.0000928
European (Non-Finnish)	0.000395	0.000389
Middle Eastern	0.00	0.00
South Asian	0.000229	0.000196
Other	0.000349	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.36
• rvis_percentile_EVS: 74.63

Haploinsufficiency Scores

• pHI: 0.143
• hipred: N
• hipred_score: 0.123
• ghis: 0.534

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cfap97